Genetic testing for familial exudative vitreoretinopathy

Author:

Abeshi Andi12,Marinelli Carla2,Beccari Tommaso3,Dundar Munis4,Colombo Leonardo5,Bertelli Matteo26

Affiliation:

1. MAGI Balkans, Tirana , Albania

2. MAGI’S Lab, Rovereto , Italy

3. Department of Pharmaceutical Sciences, University of Perugia, Perugia , Italy

4. Department of Medical Genetics, Erciyes University Medical School, Kayseri , Turkey

5. Department of Ophthalmology, ASST Santi Paolo e Carlo, University of Milan, Milan , Italy

6. MAGI Euregio, Bolzano , Italy

Abstract

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for familial exudative vitreoretinopathy (FEVR). There is insufficient data to determine the prevalence of FEVR. Variations in the FZD4 (OMIM gene: 604579; OMIM disease: 133780), TSPAN12 (OMIM gene: 613138; OMIM disease: 613310) and ZNF408 (OMIM gene: 616454; OMIM disease: 616468) genes have autosomal dominant inheritance, whereas variations in LRP5 (OMIM gene: 603506; OMIM disease: 601813) have autosomal dominant or recessive inheritance and variations in NDP (OMIM gene: 300658; OMIM disease: 305390) have X-linked inheritance. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination, fundoscopy, slit-lamp examination and fluorescein angiography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

Publisher

Walter de Gruyter GmbH

Subject

Genetics,Molecular Biology,Biomedical Engineering,Molecular Medicine,Food Science,Biotechnology

Reference8 articles.

1. 1. Shukla D, Singh J, Sudheer G, Soman M, John RK, Ramasamy K, et al. Familial exudative vitreoretinopathy (FEVR). Clinical profile andmanagement. Indian J Ophthalmol. 2003 Dec; 51:323-8. PubMed PMID: 14750620.

2. 2. Miyakubo H, Hashimoto K, Miyakubo S. Retinal vascular pattern in familial exudative vitreoretinopathy. Ophthalmology. 1984 Dec;91(12):1524-30. PubMed PMID:6084219.10.1016/S0161-6420(84)34119-7

3. 3. van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol. 1991 Jan 15;111(1):34-41. PubMed PMID: 1985487.10.1016/S0002-9394(14)76893-X

4. 4. Ober RR, Bird AC, Hamilton AM, Sehmi K. Autosomal dominant exudative vitreoretinopathy. Br J Ophthalmol. 1980 Feb;64(2):112-20. PubMed PMID: 7362811. Pubmed Central PMCID: PMC1039360.10.1136/bjo.64.2.112

5. 5. Toomes C, Downey L. Familial Exudative Vitreoretinopathy, Autosomal Dominant. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA)1993.

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3